Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene


Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. A human induced pluripotent stem cell (iPSC) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with NSML that carries a gene mutation of p.Q510P on the PTPN11 gene using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NSML. Published by Elsevier B.V.

Authors Li R, Baskfield A, Lin Y, Beers J, Zou J, Liu C, Jaffré F, Roberts AE, Ottinger EA, Kontaridis MI, Zheng W
Journal Stem cell research
Publication Date 2019 Jan;34:101374
PubMed 30640061
DOI 10.1016/j.scr.2018.101374

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